Conferences and publications

Publications

KCCG has contributed to key publications and

resources about personal genomic testing, genetic counselling in the genomic era, genomics in cancer care and more.

Bronwyn Terrill, Education and Communication Team Leader, was an author on ‘Australians’ perspectives on support around use of personal genomic testing: Findings from the Genioz study’, published in European Journal of Medical Genetics (in press).

This is the second paper from Genioz, the first large scale Australian study to explore attitudes towards personal genomics. The study has also recently made a series of resources available to help people think about what is important to them when deciding to order a personal genomic test.

Ms Terrill was also senior author on ‘Role and practice evolution for genetic counseling in the genomic era: The experience of Australian and UK genetics practitioners’ published in the Journal of Genetic Counseling in December 2018. Tanya Dwarte, first author, is a genetic counselor and Clinical Research Coordinator at the Australian Pancreatic Genome Initiative in Garvan’s Cancer division.

Mary-Anne Young, Co-Head of KCCG, contributed to numerous articles about the use of genomics in cancer, including the ethical and psychosocial impacts:

• Population-based genetic testing of asymptomatic women for breast and ovarian cancer susceptibility, published in Genetics in Medicine in September 2018.
• Development and pilot testing of a leaflet informing women with breast cancer about genomic testing for polygenic risk, published in Familial Cancer in September 2018.
• High-risk women's risk perception after receiving personalized polygenic breast cancer risk information, published in the Journal of Community Genetics in August 2018 (senior author)
• Just another straw on the stack: Men’s experiences of recontact about a potential increased risk of prostate cancer due to Lynch Syndrome, accepted in the Journal of Genetic Counselling in December 2018 (senior author)

Dr Mark Cowley, Dr Velimir Gayevskiy and A/Prof Marcel Dinger, along with collaborators across Australia, had a paper published in Human Mutation in December 2018 ‘Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection’. They report on the use of whole genome sequencing to identify a novel variant in SYNGAP1 causing developmental and epileptic encephalopathy. This variant was not identified using exome sequencing or high depth targeted sequencing. This work was done while Dr Cowley, Dr Gayevskiy and A/Prof Dinger were at KCCG.

Conferences

Dr Sarah Kummerfeld, KCCG Co-Head, presented on Realising the clinical potential of multi-omics at the Annual Australian Clinical Genomics Symposium in Brisbane in August.

Dr Martin Smith, Genomic Technologies Program lead, presented at the Nanopore Community Meeting on High-throughput targeted nanopore sequencing of single cells as part of a panel plenary session in San Francisco in November.

Dr Emma Palmer, Visiting Scientist in the Translational Genome Informatics team, presented at

• UNSW Paediatric Research Week on the application of massively parallel sequencing for the diagnosis of developmental and epileptic encephalopathies
• Australian Functional Genomics Conference on What Clinicians want in the Functional Genomics Space
• Sydney Children's Hospital Epilepsy Genetics Family Day on Clinical Research for Genetic Epilepsies as a convenor and speaker
• K2A chronic illness in childhood conference, Sydney CHildren's Hospital on the CoGENES group: aiming to improve the diagnosis, treatment and support of children with genetic epilepsies
• American Epilepsy Society Annual Conference on Application of whole genome sequencing to a cohort of children with developmental and epileptic encephalopathy (poster)